Prominent glabella with microcephaly and hypogenitalism syndrome

disorder

SNOMED 716023007CUI C0796024

Overview

Prominent glabella with microcephaly and hypogenitalism syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal distribution of hair

Very frequent (80-99%)HP:0010720

Cognitive deficits

Very frequent (80-99%)HP:0100543

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Epilepsy

Very frequent (80-99%)HP:0001250

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Macrotia

Very frequent (80-99%)HP:0000400

Narrow cranium shape

Very frequent (80-99%)HP:0000268

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Overfolded helix

Very frequent (80-99%)HP:0000396

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Protruding area between the eyebrows

Very frequent (80-99%)HP:0002057

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Short palpebral fissure

Very frequent (80-99%)HP:0012745

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Smaller than typical growth of scrotum

Very frequent (80-99%)HP:0000046

Spasticity and rigidity of muscles

Very frequent (80-99%)HP:0001276

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Very poor growth

Very frequent (80-99%)HP:0001510

Wide-spaced nipples

Very frequent (80-99%)HP:0006610

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Brachydactyly

Frequent (30-79%)HP:0001156

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Hydronephrosis

Frequent (30-79%)HP:0000126

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Short neck

Frequent (30-79%)HP:0000470

Small nasal alae

Frequent (30-79%)HP:0000430

Thickened skin folds of neck

Frequent (30-79%)HP:0000474

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Gonadal dysgenesis(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Congenital anomaly of frontal bone(parent)

Congenital anomaly of face(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 716023007
UMLS CUI: C0796024
Fully Specified Name: Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.